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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteopetrosis autosomal recessive 3


Other Names for this Disease
  • OPTB3
  • Autosomal recessive osteopetrosis type 3
  • Osteopetrosis with renal tubular acidosis
  • Guibaud Vainsel syndrome
  • Marble brain disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study of Rare Bone Diseases, Thursday, September 11, 2014
    Location: Hilton Americas, Houston, TX
    Description: <p>This workshop, coordinated by the National Bone Health Alliance (NBHA) in partnership with the Rare Bone Disease Patient Network and with the support of the American Society for Bone and Mineral Research (ASBMR) and the United States Bone and Joint Initiative (USBJI) aims to: 1)Convene a multi-disciplinary group of experts including researchers, clinicians, and patients with rare bone diseases to advance our understanding of skeletal biology and encourage the development of novel therapies to improve outcomes for individuals with both common and rare bone diseases;<span>&nbsp; </span>2)Identify gaps in our knowledge regarding the biologic mechanisms underlying rare bone disorders and share effective research strategies in translational and therapeutic areas;<span>&nbsp; </span>3)Encourage broad participation both by holding the event the day before the ASBMR 2014 Annual Meeting and providing funding for a significant number of young investigators to attend; and 4)Disseminate the results broadly by publishing the proceedings of the program in a peer-reviewed journal.</p>

Other Names for this Disease
  • OPTB3
  • Autosomal recessive osteopetrosis type 3
  • Osteopetrosis with renal tubular acidosis
  • Guibaud Vainsel syndrome
  • Marble brain disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.